1 |
TGFB2 |
NM_003238.6(TGFB2):c.687C>A (p.Cys229Ter) |
SNV |
Pathogenic
|
37088 |
rs398122885 |
GRCh37: 1:218607723-218607723 GRCh38: 1:218434381-218434381 |
2 |
TGFB2 |
NM_001135599.4:c.595_1245del |
DEL |
Pathogenic
|
620591 |
|
GRCh37: GRCh38: |
3 |
TGFB3 |
NC_000014.9:g.(?_75958692)_(75980923_?)del |
DEL |
Pathogenic
|
832288 |
|
GRCh37: 14:76425035-76447266 GRCh38: |
4 |
overlap with 4 genes |
|
DEL |
Pathogenic
|
1199382 |
|
GRCh37: 1:217589671-219026274 GRCh38: |
5 |
overlap with 10 genes |
|
DEL |
Pathogenic
|
1199383 |
|
GRCh37: 1:216243817-220231236 GRCh38: |
6 |
overlap with 6 genes |
|
DEL |
Pathogenic
|
1199384 |
|
GRCh37: 1:217219510-219385296 GRCh38: |
7 |
overlap with 2 genes |
|
DEL |
Pathogenic
|
1199385 |
|
GRCh37: 1:218238773-219024035 GRCh38: |
8 |
overlap with 29 genes |
|
DEL |
Pathogenic
|
1199386 |
|
GRCh37: 1:215199578-223035427 GRCh38: |
9 |
TGFB3 |
NM_003239.5(TGFB3):c.996G>A (p.Trp332Ter) |
SNV |
Pathogenic
|
1369504 |
|
GRCh37: 14:76427350-76427350 GRCh38: 14:75961007-75961007 |
10 |
TGFB3 |
NM_003239.5(TGFB3):c.723del (p.Asn241fs) |
DEL |
Pathogenic
|
1392107 |
|
GRCh37: 14:76431962-76431962 GRCh38: 14:75965619-75965619 |
11 |
TGFB2 |
NM_003238.6(TGFB2):c.329_330dup (p.Phe111fs) |
DUP |
Pathogenic
|
1393330 |
|
GRCh37: 1:218520370-218520371 GRCh38: 1:218347028-218347029 |
12 |
TGFB2 |
NM_003238.6(TGFB2):c.868dup (p.Arg290fs) |
DUP |
Pathogenic
|
1458546 |
|
GRCh37: 1:218609424-218609425 GRCh38: 1:218436082-218436083 |
13 |
TGFB3 |
NC_000014.8:g.(?_76425530)_(76447236_?)del |
DEL |
Pathogenic
|
1459322 |
|
GRCh37: 14:76425530-76447236 GRCh38: |
14 |
TGFB3 |
NM_003239.5(TGFB3):c.436del (p.Leu146fs) |
DEL |
Pathogenic
|
1453884 |
|
GRCh37: 14:76437978-76437978 GRCh38: 14:75971635-75971635 |
15 |
TGFB2 |
NM_003238.6(TGFB2):c.912_930del (p.Asp305fs) |
DEL |
Pathogenic
|
1299635 |
|
GRCh37: 1:218609463-218609481 GRCh38: 1:218436121-218436139 |
16 |
TGFB3 |
NM_003239.5(TGFB3):c.621del (p.Val208fs) |
DEL |
Pathogenic
|
1215028 |
|
GRCh37: 14:76437494-76437494 GRCh38: 14:75971151-75971151 |
17 |
TGFB2 |
NC_000001.10:g.(?_218520044)_(218607810_?)del |
DEL |
Pathogenic
|
1455704 |
|
GRCh37: 1:218520044-218607810 GRCh38: |
18 |
TGFB2 |
NM_003238.6(TGFB2):c.196del (p.Glu66fs) |
DEL |
Pathogenic
|
1452939 |
rs863223794 |
GRCh37: 1:218520238-218520238 GRCh38: 1:218346896-218346896 |
19 |
TGFB2 |
NM_003238.6(TGFB2):c.145A>T (p.Lys49Ter) |
SNV |
Pathogenic
|
1451388 |
|
GRCh37: 1:218520188-218520188 GRCh38: 1:218346846-218346846 |
20 |
TGFB3 |
NM_003239.5(TGFB3):c.355del (p.Glu119fs) |
DEL |
Pathogenic
|
1451952 |
|
GRCh37: 14:76438059-76438059 GRCh38: 14:75971716-75971716 |
21 |
TGFB2 |
NM_003238.6(TGFB2):c.171T>A (p.Tyr57Ter) |
SNV |
Pathogenic
|
1452940 |
|
GRCh37: 1:218520214-218520214 GRCh38: 1:218346872-218346872 |
22 |
TGFB2 |
NM_003238.6(TGFB2):c.456dup (p.Arg153fs) |
DUP |
Pathogenic
|
1351917 |
|
GRCh37: 1:218578617-218578618 GRCh38: 1:218405275-218405276 |
23 |
TGFB3 |
NM_003239.5(TGFB3):c.170dup (p.Pro57_Glu58insTer) |
DUP |
Pathogenic
|
1075580 |
|
GRCh37: 14:76447066-76447067 GRCh38: 14:75980723-75980724 |
24 |
TGFB3 |
NM_003239.5(TGFB3):c.883_884del (p.Gly295fs) |
DEL |
Pathogenic
|
410268 |
rs1060502826 |
GRCh37: 14:76429701-76429702 GRCh38: 14:75963358-75963359 |
25 |
TGFB3 |
NM_003239.5(TGFB3):c.989G>A (p.Trp330Ter) |
SNV |
Pathogenic
|
477652 |
rs1555360222 |
GRCh37: 14:76427357-76427357 GRCh38: 14:75961014-75961014 |
26 |
TGFB3 |
NM_003239.5(TGFB3):c.899G>A (p.Arg300Gln) |
SNV |
Pathogenic
|
143945 |
rs587777617 |
GRCh37: 14:76429686-76429686 GRCh38: 14:75963343-75963343 |
27 |
TGFB3 |
NM_003239.5(TGFB3):c.990G>A (p.Trp330Ter) |
SNV |
Pathogenic
|
1072149 |
|
GRCh37: 14:76427356-76427356 GRCh38: 14:75961013-75961013 |
28 |
TGFB2 |
NC_000001.10:g.(?_218520044)_(218614704_?)del |
DEL |
Pathogenic
|
1458168 |
|
GRCh37: 1:218520044-218614704 GRCh38: |
29 |
overlap with 21 genes |
|
DEL |
Pathogenic
|
224870 |
|
GRCh37: 1:215588712-222145072 GRCh38: |
30 |
overlap with 8 genes |
|
DEL |
Pathogenic
|
224871 |
|
GRCh37: 1:216672181-220202575 GRCh38: |
31 |
TGFB2 |
NM_003238.6(TGFB2):c.895C>T (p.Arg299Trp) |
SNV |
Pathogenic
|
213845 |
rs863223792 |
GRCh37: 1:218609452-218609452 GRCh38: 1:218436110-218436110 |
32 |
TGFB2 |
NM_003238.6(TGFB2):c.297C>A (p.Tyr99Ter) |
SNV |
Pathogenic
|
224874 |
rs760759052 |
GRCh37: 1:218520340-218520340 GRCh38: 1:218346998-218346998 |
33 |
TGFB2 |
NM_003238.6(TGFB2):c.1013C>A (p.Pro338His) |
SNV |
Pathogenic
|
37085 |
rs387907278 |
GRCh37: 1:218610765-218610765 GRCh38: 1:218437423-218437423 |
34 |
TGFB2 |
NM_003238.6(TGFB2):c.1022_1026del (p.Tyr341fs) |
DEL |
Pathogenic
|
224873 |
rs398122884 |
GRCh37: 1:218610773-218610777 GRCh38: 1:218437431-218437435 |
35 |
TGFB3 |
NM_003239.5(TGFB3):c.1034C>G (p.Ser345Ter) |
SNV |
Pathogenic
|
410269 |
rs1060502827 |
GRCh37: 14:76427312-76427312 GRCh38: 14:75960969-75960969 |
36 |
TGFB3 |
NM_003239.5(TGFB3):c.898C>T (p.Arg300Trp) |
SNV |
Pathogenic
|
203490 |
rs796051885 |
GRCh37: 14:76429687-76429687 GRCh38: 14:75963344-75963344 |
37 |
TGFB3 |
NM_003239.5(TGFB3):c.973C>T (p.Arg325Ter) |
SNV |
Pathogenic
|
477651 |
rs1555360229 |
GRCh37: 14:76427373-76427373 GRCh38: 14:75961030-75961030 |
38 |
TGFB2 |
NM_003238.6(TGFB2):c.896G>A (p.Arg299Gln) |
SNV |
Pathogenic
|
381708 |
rs1057521150 |
GRCh37: 1:218609453-218609453 GRCh38: 1:218436111-218436111 |
39 |
TGFB3 |
NM_003239.5(TGFB3):c.442C>T (p.Arg148Ter) |
SNV |
Pathogenic
|
390113 |
rs1057523647 |
GRCh37: 14:76437972-76437972 GRCh38: 14:75971629-75971629 |
40 |
TGFB3 |
NM_003239.5(TGFB3):c.109A>T (p.Lys37Ter) |
SNV |
Pathogenic
|
862476 |
rs2035418540 |
GRCh37: 14:76447128-76447128 GRCh38: 14:75980785-75980785 |
41 |
TGFB2 |
NM_003238.6(TGFB2):c.544C>T (p.Gln182Ter) |
SNV |
Pathogenic
|
180536 |
rs730880221 |
GRCh37: 1:218607457-218607457 GRCh38: 1:218434115-218434115 |
42 |
TGFB2 |
NM_003238.6(TGFB2):c.583G>T (p.Glu195Ter) |
SNV |
Pathogenic
|
213841 |
rs863223790 |
GRCh37: 1:218607496-218607496 GRCh38: 1:218434154-218434154 |
43 |
TGFB2 |
NM_003238.6(TGFB2):c.391C>T (p.Arg131Ter) |
SNV |
Pathogenic
|
222832 |
rs869025531 |
GRCh37: 1:218578555-218578555 GRCh38: 1:218405213-218405213 |
44 |
TGFB2 |
NM_003238.6(TGFB2):c.904C>A (p.Arg302Ser) |
SNV |
Pathogenic
|
239515 |
rs869312903 |
GRCh37: 1:218609461-218609461 GRCh38: 1:218436119-218436119 |
45 |
TGFB2 |
NM_003238.6(TGFB2):c.252dup (p.Arg85fs) |
DUP |
Pathogenic
|
408427 |
rs1553292112 |
GRCh37: 1:218520293-218520294 GRCh38: 1:218346951-218346952 |
46 |
TGFB2 |
NM_003238.6(TGFB2):c.821dup (p.Asn274fs) |
DUP |
Pathogenic
|
213849 |
rs863223796 |
GRCh37: 1:218609370-218609371 GRCh38: 1:218436028-218436029 |
47 |
TGFB2 |
NM_003238.6(TGFB2):c.905G>A (p.Arg302His) |
SNV |
Pathogenic
|
440982 |
rs1553303213 |
GRCh37: 1:218609462-218609462 GRCh38: 1:218436120-218436120 |
48 |
TGFB2 |
NM_003238.6(TGFB2):c.892_901del (p.Arg298fs) |
DEL |
Pathogenic
|
459270 |
rs1553303203 |
GRCh37: 1:218609449-218609458 GRCh38: 1:218436107-218436116 |
49 |
TGFB2 |
NC_000001.11:g.(?_218346682)_(218441382_?)del |
DEL |
Pathogenic
|
528890 |
|
GRCh37: 1:218520024-218614724 GRCh38: 1:218346682-218441382 |
50 |
TGFB2 |
NM_003238.6(TGFB2):c.990dup (p.Gly331fs) |
DUP |
Pathogenic
|
643407 |
rs1571904218 |
GRCh37: 1:218610741-218610742 GRCh38: 1:218437399-218437400 |